ClinVar Miner

List of variants in gene RYR1 reported by Cirak Lab, University Hospital Cologne

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp) rs587784379 0.00006
NM_000540.3(RYR1):c.2167G>A (p.Gly723Arg) rs755496104 0.00001
NM_000540.3(RYR1):c.10018G>A (p.Val3340Met) rs1600892115
NM_000540.3(RYR1):c.13998G>A (p.Lys4666=) rs1599649479
NM_000540.3(RYR1):c.14647-15_14649del rs1599673988
NM_000540.3(RYR1):c.1835C>A (p.Ala612Asp) rs1600682739
NM_000540.3(RYR1):c.2500_2501dup (p.Pro836fs) rs1568454672
NM_000540.3(RYR1):c.5618del (p.Glu1873fs) rs1600783776
NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro) rs1600822174
NM_000540.3(RYR1):c.8024C>A (p.Thr2675Lys) rs1600843056

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